A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669245



Internal ID9935350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127870950..127871763hg38UCSC Ensembl
Outerchr9:127870793..127871916hg38UCSC Ensembl
Innerchr9:130633229..130634042hg19UCSC Ensembl
Outerchr9:130633072..130634195hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381124
hg191124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1377e199
Supporting Variantsessv6426371, essv5699381, essv5647705, essv5748321, essv6336258, essv6549004, essv5568677, essv5906905, essv5741929, essv5463991, essv5399665
SamplesNA19909, NA18861, NA19704, NA20752, NA19190, NA19471, NA18867, NA20515, HG01334, NA18523, NA19116
Known GenesAK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669245
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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